Back to Database

ELOVL4-sEDD-late-onset ataxia

Previously: Spinocerebellar ataxia 34 (SCA34)

sEDD Gene: ELOVL4 AD

Onset: Infancy to adolescence

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

Erythrokeratodermatous plaques on extremities; cerebellar ataxia late in onset.

Additional Cutaneous Features

Fixed or migratory erythrokeratodermatous plaques, especially on extremities; improve in warmer, more humid weather, may clear during adulthood.

Additional Extracutaneous Features

Spinocerebellar ataxia begins in adolescence to adulthood and is progressive; nystagmus, dysarthria.

References

Cadieux-Dion M, Turcotte-Gauthier M, Noreau A et al. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol 2014; 71:470-5.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer